Canonical Allele Identifier: CA050385
Community Standard Title: NM_000548.5(TSC2):c.4082G>A (p.Arg1361Gln)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084304G>A , CM000678.2:g.2084304G>A GRCh38
NC_000016.9:g.2134305G>A , CM000678.1:g.2134305G>A GRCh37
NC_000016.8:g.2074306G>A NCBI36
NG_005895.1:g.39999G>A , LRG_487:g.39999G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4082G>A MANE Select NP_000539.2:p.Arg1361Gln
ENST00000219476.9:c.4082G>A MANE Select ENSP00000219476.3:p.Arg1361Gln
NM_000548.3:c.4082G>A , LRG_487t1:c.4082G>A NP_000539.2:p.Arg1361Gln
NM_000548.4:c.4082G>A NP_000539.2:p.Arg1361Gln
NM_001077183.1:c.3881G>A NP_001070651.1:p.Arg1294Gln
NM_001077183.2:c.3881G>A NP_001070651.1:p.Arg1294Gln
NM_001077183.3:c.3881G>A NP_001070651.1:p.Arg1294Gln
NM_001114382.1:c.4013G>A NP_001107854.1:p.Arg1338Gln
NM_001114382.2:c.4013G>A NP_001107854.1:p.Arg1338Gln
NM_001114382.3:c.4013G>A NP_001107854.1:p.Arg1338Gln
NM_001318827.1:c.3773G>A NP_001305756.1:p.Arg1258Gln
NM_001318827.2:c.3773G>A NP_001305756.1:p.Arg1258Gln
NM_001318829.1:c.3737G>A NP_001305758.1:p.Arg1246Gln
NM_001318829.2:c.3737G>A NP_001305758.1:p.Arg1246Gln
NM_001318831.1:c.3350G>A NP_001305760.1:p.Arg1117Gln
NM_001318831.2:c.3350G>A NP_001305760.1:p.Arg1117Gln
NM_001318832.1:c.3914G>A NP_001305761.1:p.Arg1305Gln
NM_001318832.2:c.3914G>A NP_001305761.1:p.Arg1305Gln
NM_001363528.1:c.3884G>A NP_001350457.1:p.Arg1295Gln
NM_001363528.2:c.3884G>A NP_001350457.1:p.Arg1295Gln
NM_001370404.1:c.3950G>A NP_001357333.1:p.Arg1317Gln
NM_001370405.1:c.3953G>A NP_001357334.1:p.Arg1318Gln
NM_021055.2:c.3953G>A NP_066399.2:p.Arg1318Gln
NM_021055.3:c.3953G>A NP_066399.2:p.Arg1318Gln
ENST00000219476.7:c.4082G>A ENSP00000219476.3:p.Arg1361Gln
ENST00000350773.8:c.4013G>A ENSP00000344383.4:p.Arg1338Gln
ENST00000350773.9:c.4013G>A ENSP00000344383.4:p.Arg1338Gln
ENST00000382538.10:c.3737G>A ENSP00000371978.6:p.Arg1246Gln
ENST00000401874.6:c.3881G>A ENSP00000384468.2:p.Arg1294Gln
ENST00000401874.7:c.3881G>A ENSP00000384468.2:p.Arg1294Gln
ENST00000439117.6:c.*3249G>A ENSP00000406980.2:n.*3249G>A
ENST00000439673.6:c.3773G>A ENSP00000399232.2:p.Arg1258Gln
ENST00000497886.5:n.1840G>A
ENST00000568454.5:c.3914G>A ENSP00000454487.1:p.Arg1305Gln
ENST00000568454.6:c.3914G>A ENSP00000454487.1:p.Arg1305Gln
ENST00000568566.6:c.*2431G>A ENSP00000455997.2:n.*2431G>A
ENST00000569110.1:c.264G>A
ENST00000569110.2:c.318G>A
ENST00000569930.1:n.1197G>A
ENST00000569930.2:n.1964G>A
ENST00000642206.2:c.3929G>A ENSP00000495146.2:p.Arg1310Gln
ENST00000642365.1:c.2736G>A
ENST00000642365.2:c.4079G>A ENSP00000495459.2:p.Arg1360Gln
ENST00000642561.1:c.3953G>A ENSP00000495099.1:p.Arg1318Gln
ENST00000642728.1:n.264G>A
ENST00000642797.1:c.3884G>A ENSP00000493846.1:p.Arg1295Gln
ENST00000642936.1:c.3950G>A ENSP00000494514.1:p.Arg1317Gln
ENST00000643088.1:c.3881G>A ENSP00000494747.1:p.Arg1294Gln
ENST00000643177.1:n.96G>A
ENST00000643426.1:n.1730G>A
ENST00000643946.1:c.4013G>A ENSP00000495927.1:p.Arg1338Gln
ENST00000644043.1:c.3953G>A ENSP00000496262.1:p.Arg1318Gln
ENST00000644329.1:c.3881G>A ENSP00000496611.1:p.Arg1294Gln
ENST00000644335.1:c.3884G>A ENSP00000496317.1:p.Arg1295Gln
ENST00000644399.1:c.4003G>A
ENST00000644417.2:c.*4462G>A ENSP00000493912.2:n.*4462G>A
ENST00000645024.1:n.2166G>A
ENST00000645186.1:c.325G>A
ENST00000646388.1:c.4082G>A ENSP00000495921.1:p.Arg1361Gln
ENST00000646464.2:c.*6831G>A ENSP00000496610.2:n.*6831G>A
ENST00000646634.1:n.2897G>A
ENST00000646674.1:n.1334G>A
ENST00000647042.1:n.1305G>A
ENST00000647180.1:n.1195G>A
XM_005255529.3:c.3953G>A XP_005255586.2:p.Arg1318Gln
XM_005255531.3:c.3884G>A XP_005255588.2:p.Arg1295Gln
XM_005255531.4:c.3884G>A XP_005255588.2:p.Arg1295Gln
XM_011522636.1:c.4136G>A XP_011520938.1:p.Arg1379Gln
XM_011522636.2:c.4136G>A XP_011520938.1:p.Arg1379Gln
XM_011522637.1:c.4133G>A XP_011520939.1:p.Arg1378Gln
XM_011522637.2:c.4133G>A XP_011520939.1:p.Arg1378Gln
XM_011522638.1:c.4025G>A XP_011520940.1:p.Arg1342Gln
XM_011522638.2:c.4298G>A XP_011520940.2:p.Arg1433Gln
XM_011522639.1:c.4007G>A XP_011520941.1:p.Arg1336Gln
XM_011522639.2:c.4007G>A XP_011520941.1:p.Arg1336Gln
XM_011522640.1:c.4004G>A XP_011520942.1:p.Arg1335Gln
XM_011522640.2:c.4004G>A XP_011520942.1:p.Arg1335Gln
XM_011522641.1:c.3773G>A XP_011520943.1:p.Arg1258Gln
XM_017023615.1:c.4079G>A XP_016879104.1:p.Arg1360Gln
XM_017023616.1:c.3950G>A XP_016879105.1:p.Arg1317Gln
XM_017023617.1:c.4046G>A XP_016879106.1:p.Arg1349Gln
XM_017023618.1:c.2792G>A XP_016879107.1:p.Arg931Gln
XM_024450413.1:c.3881G>A XP_024306181.1:p.Arg1294Gln